Canonical Allele Identifier: CA370102733

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152187425C>T , CM000669.2:g.152187425C>T	GRCh38
NC_000007.13:g.151884510C>T , CM000669.1:g.151884510C>T	GRCh37
NC_000007.12:g.151515443C>T	NCBI36
NG_033948.1:g.253581G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.4845G>A MANE Select	NP_733751.2:p.Trp1615Ter
ENST00000262189.11:c.4845G>A MANE Select	ENSP00000262189.6:p.Trp1615Ter
NM_170606.2:c.4845G>A	NP_733751.2:p.Trp1615Ter
ENST00000262189.10:c.4845G>A	ENSP00000262189.6:p.Trp1615Ter
ENST00000355193.6:c.4845G>A	ENSP00000347325.3:p.Trp1615Ter
ENST00000360104.8:c.467G>A
ENST00000473186.5:n.2556G>A
ENST00000558084.5:c.*2365G>A	ENSP00000453752.1:n.*2365G>A
ENST00000679645.1:c.*938G>A	ENSP00000505745.1:n.*938G>A
ENST00000679882.1:c.4620G>A	ENSP00000506154.1:p.Trp1540Ter
ENST00000680969.1:c.2241G>A	ENSP00000505951.1:p.Trp747Ter
ENST00000681033.1:c.3543G>A	ENSP00000505058.1:p.Trp1181Ter
ENST00000681635.1:n.196G>A
ENST00000682176.1:c.1564G>A
ENST00000682283.1:c.4845G>A	ENSP00000507485.1:p.Trp1615Ter
ENST00000683159.1:c.338G>A
ENST00000683200.1:c.2193G>A	ENSP00000508052.1:p.Trp731Ter
XM_005250025.3:c.4896G>A	XP_005250082.1:p.Trp1632Ter
XM_005250025.4:c.4896G>A	XP_005250082.1:p.Trp1632Ter
XM_005250026.2:c.4893G>A	XP_005250083.1:p.Trp1631Ter
XM_005250026.3:c.4893G>A	XP_005250083.1:p.Trp1631Ter
XM_005250027.3:c.4896G>A	XP_005250084.1:p.Trp1632Ter
XM_005250027.4:c.4896G>A	XP_005250084.1:p.Trp1632Ter
XM_005250028.3:c.4896G>A	XP_005250085.1:p.Trp1632Ter
XM_005250028.4:c.4896G>A	XP_005250085.1:p.Trp1632Ter
XM_005250031.3:c.4896G>A	XP_005250088.1:p.Trp1632Ter
XM_005250031.4:c.4896G>A	XP_005250088.1:p.Trp1632Ter
XM_006716077.2:c.4896G>A	XP_006716140.1:p.Trp1632Ter
XM_006716077.3:c.4896G>A	XP_006716140.1:p.Trp1632Ter
XM_006716078.2:c.4896G>A	XP_006716141.1:p.Trp1632Ter
XM_006716078.3:c.4896G>A	XP_006716141.1:p.Trp1632Ter
XM_006716079.2:c.4896G>A	XP_006716142.1:p.Trp1632Ter
XM_006716079.3:c.4896G>A	XP_006716142.1:p.Trp1632Ter
XM_011516450.1:c.4848G>A	XP_011514752.1:p.Trp1616Ter
XM_011516450.2:c.4848G>A	XP_011514752.1:p.Trp1616Ter
XM_011516451.1:c.4776G>A	XP_011514753.1:p.Trp1592Ter
XM_011516451.2:c.4776G>A	XP_011514753.1:p.Trp1592Ter
XM_011516452.1:c.4743G>A	XP_011514754.1:p.Trp1581Ter
XM_011516452.2:c.4743G>A	XP_011514754.1:p.Trp1581Ter
XM_011516453.1:c.4896G>A	XP_011514755.1:p.Trp1632Ter
XM_011516453.2:c.4896G>A	XP_011514755.1:p.Trp1632Ter
XM_011516454.1:c.3981G>A	XP_011514756.1:p.Trp1327Ter
XM_011516454.2:c.3981G>A	XP_011514756.1:p.Trp1327Ter
XM_011516455.1:c.2442G>A	XP_011514757.1:p.Trp814Ter
XM_011516456.1:c.4848G>A	XP_011514758.1:p.Trp1616Ter
XM_011516456.2:c.4848G>A	XP_011514758.1:p.Trp1616Ter
XM_017012480.1:c.4896G>A	XP_016867969.1:p.Trp1632Ter
XM_017012481.1:c.4893G>A	XP_016867970.1:p.Trp1631Ter
XM_017012482.1:c.4896G>A	XP_016867971.1:p.Trp1632Ter
XM_017012483.1:c.4896G>A	XP_016867972.1:p.Trp1632Ter
XM_017012484.1:c.4863G>A	XP_016867973.1:p.Trp1621Ter
XM_017012485.1:c.4845G>A	XP_016867974.1:p.Trp1615Ter
XM_017012486.1:c.4896G>A	XP_016867975.1:p.Trp1632Ter
XM_017012487.1:c.4749G>A	XP_016867976.1:p.Trp1583Ter
XM_017012488.1:c.4896G>A	XP_016867977.1:p.Trp1632Ter
XM_017012489.1:c.1566G>A	XP_016867978.1:p.Trp522Ter
XM_017012490.2:c.1170G>A	XP_016867979.1:p.Trp390Ter
XM_024446852.1:c.4893G>A	XP_024302620.1:p.Trp1631Ter
XM_024446853.1:c.4896G>A	XP_024302621.1:p.Trp1632Ter
XR_428183.2:n.5104G>A
XR_428183.3:n.5128G>A